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Laura E Case

Showing results (41-50 of 57) with videos related to

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Pediatric Radiology|March 8, 2007
Fractures in children with Pompe disease: a potential long-term complicationLaura E Case, Rabi Hanna, Donald P Frush, et al.
The Lancet. Neurology|December 1, 2009
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial managementKatharine Bushby, Richard Finkel, David J Birnkrant, et al.
The Lancet. Neurology|December 1, 2009
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary careKatharine Bushby, Richard Finkel, David J Birnkrant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experienceNeha Regmi, Daniel Kenney-Jung, Grace Stafford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2012
The emerging phenotype of long-term survivors with infantile Pompe diseaseSean N Prater, Suhrad G Banugaria, Stephanie M DeArmey, et al.
Molecular Genetics and Metabolism Reports|November 25, 2021
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type IIIGhada Hijazi, Anna Paschall, Sarah P Young, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association|April 2, 2013
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type IKristin J Krosschell, Jo Anne Maczulski, Charles Scott, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe diseaseYoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Pediatric Radiology|March 8, 2007
Fractures in children with Pompe disease: a potential long-term complicationLaura E Case, Rabi Hanna, Donald P Frush, et al.
The Lancet. Neurology|December 1, 2009
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial managementKatharine Bushby, Richard Finkel, David J Birnkrant, et al.
The Lancet. Neurology|December 1, 2009
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary careKatharine Bushby, Richard Finkel, David J Birnkrant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experienceNeha Regmi, Daniel Kenney-Jung, Grace Stafford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2012
The emerging phenotype of long-term survivors with infantile Pompe diseaseSean N Prater, Suhrad G Banugaria, Stephanie M DeArmey, et al.
Molecular Genetics and Metabolism Reports|November 25, 2021
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type IIIGhada Hijazi, Anna Paschall, Sarah P Young, et al.
Neuromuscular Disorders : NMD|January 26, 2015
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe diseaseLaura E Case, Carl Bjartmar, Claire Morgan, et al.
Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association|April 2, 2013
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type IKristin J Krosschell, Jo Anne Maczulski, Charles Scott, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe diseaseYoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Pageof 6